Epalrestat for PMM2-CDG

Recruiting in Palo Alto (17 mi)

Overseen byEva Morava-Kozicz, MD, PhD

Age: < 18

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 3

Waitlist Available

Sponsor: Eva Morava-Kozicz

Pivotal Trial (Near Approval)

Prior Safety Data

Trial Summary

What is the purpose of this trial?This trial is testing a medication called epalrestat, taken by mouth, to see if it helps children with a rare genetic disorder called PMM2-CDG. The goal is to check if the medication is safe and if it improves their metabolism and overall health. Researchers will compare the results to ensure the findings are accurate.

Eligibility Criteria

This trial is for children aged 2 to under 18 with PMM2-CDG, a rare genetic disorder. They must be able to follow the study plan and not be pregnant or at risk of pregnancy without proper contraception. Kids can't join if they're allergic to epalrestat, have anemia, kidney problems, low platelets, liver issues, other CDGs or are on certain other drugs.

Inclusion Criteria

For subjects of child-bearing potential-only, subject has been counseled on and agrees to the requirement either for double barrier contraceptive methods and/or for total abstinence from prior to randomization through 3-months after the cessation of treatment.

Be willing and able to adhere to the study assessments and schedule described in the protocol and consent/assent documents

I am between 2 and 17 years old.

+3 more

Exclusion Criteria

I have had liver problems, like high enzyme levels or liver stiffness, in the last 6 months.

Any other medical condition, which, in the opinion of the investigator, will interfere with the patient's ability to comply with the protocol, compromises patient safety, or interferes with the interpretation of the study results.

I haven't used any experimental drugs or biologics recently.

+8 more

Participant Groups

The study tests oral Epalrestat against a placebo in kids with PMM2-CDG. It's designed to see if it's safe and tolerable and whether it improves their condition. Participants will randomly receive either the drug or placebo without knowing which one they get.

2Treatment groups

Experimental Treatment

Placebo Group

Group I: EpalrestatExperimental Treatment1 Intervention

Epalrestat will be administered orally, 3 times per day (TID) spaced out as evenly as possible over 24 hours in a divided dose starting on Day 1 of the Study.

Group II: PlaceboPlacebo Group1 Intervention

Placebo will be administered orally, 3 times per day (TID) spaced out as evenly as possible over 24 hours in a divided dose starting on Day 1 of the Study.